Varaico: Literature-Extracted Genetic Variants

SPEN

881 papers

RefSeq Summary

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins i...

Pfam Domains

RRM_1aa 8–75UCSCRNA recognition motif

RRM_1aa 337–407UCSCRNA recognition motif

RRM_1aa 440–507UCSCRNA recognition motif

RRM_1aa 519–583UCSCRNA recognition motif

MINT_MIDaa 2059–2389UCSCMsx2-interacting protein, MID domain

MINT_RIDaa 2400–2639UCSCMsx2-interacting protein, nuclear receptor-interacting domain

Gene Aliases

HGNC Name

spen family transcriptional repressor

HGNC Alias Symbols

KIAA0929; MINT; SHARP; RBM15C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015001.3

p.K943R

c.2828A>G

Surrounding Variants

1 paper

NM_015001.3

p.K943fs

c.2827_2828fs

1 paper

NM_015001.3

p.E942delFs

c.2825delA

1 paper

NM_015001.3

p.S946*

c.2837C>A

1 paper

NM_015001.3

p.S946*

c.2837C>G

1 paper

NM_015001.3

p.M937V

c.2809A>G

1 paper

NM_015001.3

p.V952M

c.2854G>A

1 paper

NM_015001.3

p.E933V

c.2798A>T

1 paper

NM_015001.3

p.L929*

c.2786T>A

1 paper

NM_015001.3

p.K926K

c.2778A>G

1 paper

NM_015001.3

p.A925T

c.2773G>A

2 papers

NM_015001.3

p.K962T

c.2885A>C

2 papers

NM_015001.3

p.T922M

c.2765C>T